Podcast
Questions and Answers
Which enzyme deficiency is associated with increased blood pressure?
Which enzyme deficiency is associated with increased blood pressure?
Which enzyme deficiency is characterized by a decrease in androstenedione levels?
Which enzyme deficiency is characterized by a decrease in androstenedione levels?
Which enzyme deficiency presents with severe hypertension and precocious puberty in childhood?
Which enzyme deficiency presents with severe hypertension and precocious puberty in childhood?
Individuals with 21-Hydroxylase deficiency often experience what symptom?
Individuals with 21-Hydroxylase deficiency often experience what symptom?
Signup and view all the answers
Which of the following is NOT a common presentation of 17 Alpha-Hydroxylase deficiency in females?
Which of the following is NOT a common presentation of 17 Alpha-Hydroxylase deficiency in females?
Signup and view all the answers
What physiological response is observed with 11beta-Hydroxylase deficiency?
What physiological response is observed with 11beta-Hydroxylase deficiency?
Signup and view all the answers
Which presentation is common in individuals with 21-Hydroxylase deficiency?
Which presentation is common in individuals with 21-Hydroxylase deficiency?
Signup and view all the answers
How does 17 Alpha-Hydroxylase deficiency affect potassium levels?
How does 17 Alpha-Hydroxylase deficiency affect potassium levels?
Signup and view all the answers
What hormone level is affected in 17 Alpha-Hydroxylase deficiency?
What hormone level is affected in 17 Alpha-Hydroxylase deficiency?
Signup and view all the answers
What laboratory change is typical for 21-Hydroxylase deficiency?
What laboratory change is typical for 21-Hydroxylase deficiency?
Signup and view all the answers
What effect does a deficiency in 11beta-Hydroxylase have on potassium levels?
What effect does a deficiency in 11beta-Hydroxylase have on potassium levels?
Signup and view all the answers
Which of the following symptoms is most commonly associated with 21-Hydroxylase deficiency?
Which of the following symptoms is most commonly associated with 21-Hydroxylase deficiency?
Signup and view all the answers
In males with 17 Alpha-Hydroxylase deficiency, which condition is commonly observed?
In males with 17 Alpha-Hydroxylase deficiency, which condition is commonly observed?
Signup and view all the answers
What is a notable laboratory change in patients with 21-Hydroxylase deficiency?
What is a notable laboratory change in patients with 21-Hydroxylase deficiency?
Signup and view all the answers
What physiological change is typically observed in individuals with a deficiency in 17 Alpha-Hydroxylase?
What physiological change is typically observed in individuals with a deficiency in 17 Alpha-Hydroxylase?
Signup and view all the answers
Which enzyme deficiency is most common and presents with hypotension and salt wasting in infancy?
Which enzyme deficiency is most common and presents with hypotension and salt wasting in infancy?
Signup and view all the answers
Which enzyme deficiency leads to an increase in 17-hydroxyprogesterone levels?
Which enzyme deficiency leads to an increase in 17-hydroxyprogesterone levels?
Signup and view all the answers
Which of the following is NOT a common presentation in females with 17 Alpha-Hydroxylase deficiency?
Which of the following is NOT a common presentation in females with 17 Alpha-Hydroxylase deficiency?
Signup and view all the answers
Which enzyme deficiency is associated with increased renin activity and decreased blood pressure?
Which enzyme deficiency is associated with increased renin activity and decreased blood pressure?
Signup and view all the answers
Which enzyme deficiency can present with precocious puberty in both males and females?
Which enzyme deficiency can present with precocious puberty in both males and females?
Signup and view all the answers
What is the primary physiological change associated with 11beta-Hydroxylase deficiency?
What is the primary physiological change associated with 11beta-Hydroxylase deficiency?
Signup and view all the answers
Which presentation is expected in females with 21-Hydroxylase deficiency?
Which presentation is expected in females with 21-Hydroxylase deficiency?
Signup and view all the answers
How does 17 Alpha-Hydroxylase deficiency present in males?
How does 17 Alpha-Hydroxylase deficiency present in males?
Signup and view all the answers
What laboratory change is typically observed in individuals with 17 Alpha-Hydroxylase deficiency?
What laboratory change is typically observed in individuals with 17 Alpha-Hydroxylase deficiency?
Signup and view all the answers
What physiological parameter is typically decreased in individuals with 21-Hydroxylase deficiency?
What physiological parameter is typically decreased in individuals with 21-Hydroxylase deficiency?
Signup and view all the answers
What physiological consequence is directly linked to 11beta-Hydroxylase deficiency?
What physiological consequence is directly linked to 11beta-Hydroxylase deficiency?
Signup and view all the answers
Which presentation is typical for individuals with a deficiency in 17 Alpha-Hydroxylase?
Which presentation is typical for individuals with a deficiency in 17 Alpha-Hydroxylase?
Signup and view all the answers
How does 21-Hydroxylase deficiency affect laboratory values?
How does 21-Hydroxylase deficiency affect laboratory values?
Signup and view all the answers
Which of the following is a characteristic change in individuals with 11beta-Hydroxylase deficiency?
Which of the following is a characteristic change in individuals with 11beta-Hydroxylase deficiency?
Signup and view all the answers
What abnormality is commonly observed in males with 21-Hydroxylase deficiency?
What abnormality is commonly observed in males with 21-Hydroxylase deficiency?
Signup and view all the answers
Study Notes
Enzyme Deficiencies and Steroidogenesis
-
11beta-Hydroxylase Deficiency:
- Mineralocorticoids (Aldosterone) are increased
- 11-deoxycorticosterone is decreased
- Aldosterone is decreased
- Potassium (K+) is decreased
- Blood pressure is increased
- Sex hormones are increased
- Renin activity is decreased
- Presentation: Severe hypertension; presents in childhood (precocious puberty); virilization in females (excess androgens)
-
17 Alpha-Hydroxylase Deficiency:
- Mineralocorticoids (Aldosterone) are increased
- Potassium (K+) is decreased
- Blood pressure is increased
- Sex hormones are decreased
- Androstenedione (precursor to testosterone and estrogens) is decreased
- Presentation: Severe hypertension; lack of sexual development (low pubic hair), primary amenorrhea in females; normal genitalia in females and males lack sexual development
-
21-Hydroxylase Deficiency:
- Mineralocorticoids (Aldosterone) is decreased
- Potassium (K+) is increased
- Blood pressure is decreased
- Sex hormones are increased
- Renin activity is increased
- 17-hydroxyprogesterone is increased
- Presentation: Most common; hypotension; presents in infancy with salt wasting; childhood (precocious puberty); virilization in females (excess androgens)
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
Description
This quiz covers the key concepts of enzyme deficiencies related to steroidogenesis, including 11beta-hydroxylase, 17 alpha-hydroxylase, and 21-hydroxylase deficiencies. Learn about the physiological effects, hormonal imbalances, and clinical presentations associated with each condition. Perfect for students studying endocrinology or related fields.
